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. 2021 Mar 8;113(9):1212–1220. doi: 10.1093/jnci/djab029

Table 2.

Patient and tumor characteristics of proven LS-associated ECs

No. Study Age, y FIGO (2009) Histotype Grade Molecular class by TCGA surrogate Affected MMR proteins MLH1 promoter methylation Gene Coding DNA mutation Amino acid change Classa
1 PORTEC-1 47 IB Endometrioid G2 MMRd MSH2 + MSH6 NA MSH2 c.1351C>T p.(Gln451*) 5
2 PORTEC-1 67 IB Endometrioid G1 MMRd MSH2 + MSH6 NA MSH2 c.363T>G p.(Tyr121*) 5
3 PORTEC-1 52 IA Endometrioid G3 MMRd MSH2 + MSH6 NA MSH2 c.646-2A>G p.(?) 4
4 PORTEC-1 54 IA Endometrioid G1 MMRd MSH2 + MSH6 NA MSH2 c.2458 + 1G>A p.(?) 4
5 PORTEC-3 48 IIIC Endometrioid G2 MMRd MSH2 + MSH6 NA MSH2 c.1285C>T p.(Gln429*) 5
6 PORTEC-3 37 IIIC Clear cell G2 MMRd MSH2 + MSH6 NA MSH2 b NA NA 5
7 PORTEC-3 59 IA Clear cell G3 MMRd MSH2 + MSH6 NA MSH6 c.3188T>G p.(leu1063Arg) 5
8 PORTEC-1 56 IA Serous G3 MMRd-p53abn MSH2 subclonal + MSH6 NA MSH6 c.1784delT p.(Leu595Tyrfs*15) 5
9 PORTEC-1 67 IB Endometrioid G1 MMRd MSH6 NA MSH6 c.1189_1190insTT p.(Tyr397Phefs*15) 5
10 PORTEC-1 58 IA Endometrioid G1 MMRd MSH6 NA MSH6 c.642C>A p.(Tyr214*) 5
11 PORTEC-2 67 IB Endometrioid G1 MMRd MSH6 NA MSH6 c.2764C>T p.(Arg922*) 5
12 PORTEC-2 66 IB Endometrioid G3 MMRd MSH6 NA MSH6 c.1483C>T p.(Arg495*) 5
13 PORTEC-2 73 IB Endometrioid G1 MMRd-p53abn MSH6 NA MSH6 c.1628_1629delAA p.(Lys543Argfs*19) 5
14 PORTEC-2 82 IIIA Endometrioid G1 MMRd MSH6 NA MSH6 c.3729_3732dupATTA p.(Phe1245Ilefs*31) 5
15 PORTEC-2 71 IB Endometrioid G2 MMRd-p53abn MSH6 NA MSH6 c.2719_2720delGT p.(Val907Argfs*10) 5
16 PORTEC-3 51 IIIA Endometrioid G1 MMRd MSH6 NA MSH6 c.3477C>A p.(Tyr1159*) 5
17 PORTEC-3 55 IIIC Endometrioid G3 MMRd-p53abn MSH6 NA MSH6 c.2906_2907delAT p.(Tyr969Leufs*5) 5
18 PORTEC-3 61 IB Clear cell G3 MMRd MSH6 NA MSH6 c.3838C>T p.(Gln1280*) 5
19 PORTEC-3 68 IIIA Endometrioid G1 MMRd MSH6 NA MSH6 c.467C>G p.(Ser156*) 5
20 PORTEC-3 59 IB Serous G3 MMRd-p53abn MSH6 NA MSH6

c.3527_3549delGACTTG

GTGCCTCAGACAGAATA

 p.(Arg1176Asnfs*4) 5
21 PORTEC-3 60 IA Serous G3 POLEmut-MMRd MSH6 NA MSH6 c.2342dupC p.(Leu782Thrfs*3) 5
22 PORTEC-3 59 IB Clear cell G3 MMRd MSH6 NA MSH6 c.3863_3865dupAAT p.(Phe1289*) 5
23 PORTEC-3 76 IB Serous G3 MMRd MSH6 NA MSH6 c.3847_3850dupATTA p.(Thr1284Asnfs*6) 5
24 PORTEC-3 74 IA Serous G3 MMRd-p53abn MSH6 NA MSH6 c.10C>T p.(Gln4*) 4
25 PORTEC-1 57 IB Endometrioid G3 MMRd PMS2 NA PMS2 c.1882C>T p.(Arg628*) 5
26 PORTEC-1 66 IB Endometrioid G1 MMRd PMS2 NA PMS2 c.1882C>T p.(Arg628*) 5
27 PORTEC-1 64 IB Endometrioid G3 MMRd-p53abn PMS2 NA PMS2 c.247_250dupTTAA p.(Thr84Ilefs*9) 5
28 PORTEC-1 65 IB Endometrioid G1 MMRd PMS2 NA PMS2 c.1261C>T p.(Arg421*) 5
29 PORTEC-2 61 IB Endometrioid G1 MMRd PMS2 NA PMS2 c.904_911delGTCTGCAG p.(Val302Thrfs*4) 5
30 PORTEC-2 61 IB Endometrioid G3 MMRd PMS2 NA PMS2 c.1831dupA p.(Ile611Asnfs*2) 5
31 PORTEC-2 78 IB Endometrioid G1 POLEmut-MMRd PMS2 NA PMS2 c.1882C>T p.(Arg628*) 5
32 PORTEC-2 62 IB Endometrioid G2 MMRd PMS2 NA PMS2 c.904_911delGTCTGCAG p.(Val302Thrfs*4) 5
33 PORTEC-3 54 IB Endometrioid G3 MMRd PMS2 NA PMS2 c.137G>T p.(Ser46Ile) 5
34 PORTEC-3 48 II Endometrioid G3 MMRd PMS2 NA PMS2 c.989-2A>G p.(Glu330_Glu381del) 4
35 PORTEC-3 52 IIIC Endometrioid G2 Not classified MLH1 + PMS2 Methylated MLH1 c.794G>C p.(Arg265Pro) 4
36 PORTEC-1 48 IB Endometrioid G1 MMRd MSI-highc Unmethylated MLH1 c.806C>G p.(Ser269*) 5
a

Classification according to the 5-tiered InSiGHT rules: class 5 is pathogenic and class 4 is likely pathogenic. G = grade; IHC = immunohistochemistry; LS = Lynch syndrome; MMRd = mismatch repair deficient; NA = not available; p53abn = p53 abnormal; POLEmut = POLE-ultramutated; PORTEC = Post Operative Radiation Therapy in Endometrial Carcinoma; TCGA = The Cancer Genome Atlas.

b

Loss-of-function variant in MSH2 gene identified by genetic testing (clinical data) but insufficient material for normal tissue next-generation sequencing.

c

No material for MLH1 and PMS2 IHC.